Linked Data
dbSNP Id:
rs779264612
gnomAD v2:
11-2167648-TGGCGTCAGCCC-T
gnomAD v3:
11-2146418-TGGCGTCAGCCC-T
gnomAD v4:
11-2146418-TGGCGTCAGCCC-T
MyVariant Identifiers:
chr11:g.2167649_2167659del (hg19)
chr11:g.2146420_2146430del (hg38)
chr11:g.2146419_2146429del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146422_2146432del , CM000673.2:g.2146422_2146432del | GRCh38 |
| NC_000011.9:g.2167652_2167662del , CM000673.1:g.2167652_2167662del | GRCh37 |
| NC_000011.8:g.2124228_2124238del | NCBI36 |
| NG_008849.1:g.8175_8185del | |
| NG_050578.1:g.19781_19791del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+1137_-7+1147del (IGF2) | ENSP00000511998.1:n.-7+1137_-7+1147del | |
| ENST00000643349.2:c.*46+1137_*46+1147del | ENSP00000495715.1:n.*46+1137_*46+1147del | |
| ENST00000695541.1:c.-7+1137_-7+1147del (IGF2) | ENSP00000511997.1:n.-7+1137_-7+1147del | |
| ENST00000643349.1:c.*46+1137_*46+1147del | ENSP00000495715.1:n.*46+1137_*46+1147del | |
| ENST00000356578.8:c.*46+1137_*46+1147del (INS-IGF2) | ENSP00000348986.4:n.*46+1137_*46+1147del | |
| NM_001007139.5:c.-7+1137_-7+1147del (IGF2) | NP_001007140.2:n.-7+1137_-7+1147del | |
| NR_003512.3:n.708+1137_708+1147del (INS-IGF2) | ||
| NR_028043.2:n.614_624del (IGF2-AS) | ||
| NR_133657.1:n.503_513del (IGF2-AS) | ||
| NR_003512.4:n.708+1137_708+1147del (INS-IGF2) | ||
| NM_001007139.6:c.-7+1137_-7+1147del (IGF2) | NP_001007140.2:n.-7+1137_-7+1147del |